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De Novo Variants In The Poly(Rc)-Binding Protein Gene Pcbp1 Cause A Neurodevelopmental Disorder

2025-12-12 genetic and genomic medicine Title + abstract only
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Poly(rC)-binding protein 1 (PCBP1), a splicing factor and key member of the hnRNP E family, was initially characterized for its tumor suppressive properties. More recently, its role in regulating gene expression in the brain and nervous system has attracted growing interest. Through an international multicenter collaboration, we identified 13 de novo pathogenic variants in PCBP1 across 13 unrelated families. All affected individuals exhibited intellectual disability (ID), with autism spectrum di...

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